rs80338962

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs80338962(A;G)

Make rs80338962(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

63941508

Gene

SCN4A

is a	snp
is	mentioned by
dbSNP	rs80338962
dbSNP (classic)	rs80338962
ClinGen	rs80338962
ebi	rs80338962
HLI	rs80338962
Exac	rs80338962
Gnomad	rs80338962
Varsome	rs80338962
LitVar	rs80338962
Map	rs80338962
PheGenI	rs80338962
Biobank	rs80338962
1000 genomes	rs80338962
hgdp	rs80338962
ensembl	rs80338962
geneview	rs80338962
scholar	rs80338962
google	rs80338962
pharmgkb	rs80338962
gwascentral	rs80338962
openSNP	rs80338962
23andMe	rs80338962
SNPshot	rs80338962
SNPdbe	rs80338962
MSV3d	rs80338962
GWAS Ctlg	rs80338962

Max Magnitude

0

OMIM	603967
Desc
Variant	0002
Related	also

ClinVar
Risk	rs80338962(G;G)
Alt	rs80338962(G;G)
Reference	Rs80338962(A;A)
Significance	Pathogenic
Disease	Familial hyperkalemic periodic paralysis Paramyotonia congenita/hyperkalemic periodic paralysis Hyperkalemic Periodic Paralysis Type 1
Variation	info
Gene	SCN4A
CLNDBN	Familial hyperkalemic periodic paralysis Paramyotonia congenita/hyperkalemic periodic paralysis Hyperkalemic Periodic Paralysis Type 1
Reversed	1
HGVS	NC_000017.10:g.62018868T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006256.4, RCV000006257.4, RCV000020279.2,